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Medline ® Abstract for Reference 99

of 'Clinical manifestations and diagnosis of Fanconi anemia'

Endocrine disorders in Fanconi anemia: recommendations for screening and treatment.
Petryk A, Kanakatti Shankar R, Giri N, Hollenberg AN, Rutter MM, Nathan B, Lodish M, Alter BP, Stratakis CA, Rose SR
J Clin Endocrinol Metab. 2015;100(3):803. Epub 2015 Jan 9.
CONTEXT: Endocrine problems are common in patients with Fanconi anemia (FA). About 80% of children and adults with FA have at least one endocrine abnormality, including short stature, GH deficiency, abnormal glucose or insulin metabolism, dyslipidemia, hypothyroidism, pubertal delay, hypogonadism, or impaired fertility. The goal of this report is to provide an overview of endocrine abnormalities and guidelines for routine screening and treatment to allow early diagnosis and timely intervention.
EVIDENCE ACQUISITION: This work is based on a comprehensive literature review, including relevant articles published between 1971 and 2014, and proceedings of a Consensus Conference held by the Fanconi Anemia Research Fund in 2013.
EVIDENCE SYNTHESIS: The panel of experts collected published evidence and discussed its relevance to reflect current information about the endocrine care of children and adults with FA before the Consensus Conference and through subsequent deliberations that led to the consensus.
CONCLUSIONS: Individuals with FA should be routinely screened for endocrine abnormalities, including evaluation of growth; glucose, insulin, and lipid metabolism; thyroid function; puberty; gonadal function; and bone mineral metabolism. Inclusion of an endocrinologist as part of the multidisciplinary patient care team is key to providing comprehensive care for patients with FA.
Division of Pediatric Endocrinology (A.P., B.N.), University of Minnesota Masonic Children's Hospital, Minneapolis, Minnesota 55454; Department of Pediatrics (R.K.S.), Children's Hospital of Richmond at Virginia Commonwealth University, Richmond, Virginia 23229; Clinical Genetics Branch (N.G., B.P.A.), Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland 20850; Division of Endocrinology, Diabetes and Metabolism (A.N.H.), Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02215; Division of Endocrinology (M.M.R., S.R.R.), Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229; Pediatric Endocrinology Inter-Institute Training Program (M.L.), National Institutes of Health, Bethesda, Maryland 20892; and Section on Endocrinology and Genetics (M.L., C.A.S.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Ch